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Related Experiment Video

Updated: Jun 4, 2026

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well

Published on: February 27, 2026

Mutational analysis in antithrombin deficiency.

¹Department of Haematology, Haemophilia Centre and Haemostasis Unit, Royal Free Hospital School of Medicine, London, UK.

Methods in Molecular Medicine

|February 23, 2011

Summary

This summary is machine-generated.

Human antithrombin deficiency, a condition affecting blood coagulation, presents in two types. Type I involves reduced antithrombin levels, while Type II features dysfunctional protein, both increasing thrombosis risk.

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Published on: June 9, 2018

Area of Science:

Biochemistry
Hematology
Genetics

Background:

Human antithrombin (AT) is a key plasma inhibitor of coagulation proteases, belonging to the SERPIN superfamily.
AT's inhibitory activity is significantly enhanced by heparin and other glycosaminoglycans.
AT deficiency, either quantitative (Type I) or qualitative (Type II), is linked to recurrent thromboembolic disease.

Purpose of the Study:

To elucidate the prevalence and clinical significance of antithrombin deficiency.
To correlate specific molecular abnormalities of antithrombin with the risk of venous thromboembolic disease.

Main Methods:

Review of existing epidemiological data on antithrombin deficiency prevalence.
Analysis of clinical outcomes associated with different types of antithrombin mutations.

Main Results:

Type I antithrombin deficiency (50% reduction) affects ~1 in 4200 individuals.
Type II deficiency (dysfunctional protein) may affect up to 1 in 600 individuals.
4-6% of patients with thromboembolic disease have antithrombin deficiency.

Conclusions:

Antithrombin deficiency is a recognized cause of recurrent venous thromboembolic disease.
The risk of thrombosis is dependent on the specific molecular defect.
Mutations in the reactive site or pleiotropic abnormalities confer high risk, while heparin-binding domain mutations confer lower risk.